Journal Articles Written About Charcot-Marie-Tooth Disease



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Please note that ALL of the articles listed on these pages are old. The reason I have left them here as a reference is that some of the old research done a number of years ago, has not been repeated or updated. Some people may find these articles have some value in their search for information about
Charcot Marie Tooth Disease.


The Full Text of the Following Articles Can Be Found At Your Local Medical Library, Some of the Articles Or Their Abstracts May Be Found By Searching Medline for "Charcot Marie Tooth" or "Hereditary Motor Sensory Neuropathy"



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Autosomal Recessive CMT

  • "Autosomal recessive Charcot Marie Tooth disease", Malcolm S.; J Neurol Neurosurg Psychiatry. 1999 May;66(5):560.
  • "New form of autosomal-recessive axonal hereditary sensory motor neuropathy" Eckhardt SM, et al; Pediatr Neurol. 1998 p;19(3):234-5
  • "The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q. " Ring HZ, et al. Hum Genet. 1999 Apr;104(4):326-32.

Bone Density In CMT
  • "Pathologic fracture of the tibia associated with Charcot Marie Tooth disease", Quintart C, et al; .Acta Orthop Belg. 1999 Mar;65(1):105-8.

Cardiovascular Problems In CMT
  • "Cardiac involvement in neuromuscular diseases": Posada Rodriguez IJ,et.al., : Rev Esp Cardiol 1997 Dec;50(12):882-901
  • "Pattern VEP in a case of Charcot-Marie-Tooth syndrome with renin-dependant systemic hypertension" Yamasaki A.,et.al; : Japanese Journal of Clinical Ophthalmology 1997 51/3 (325-328)
  • "Cardiovascular Aberrations in Patients With Neuromuscular Diseases", Anton Zupan, Acta Cardiomiologica; 1995 7/2 (107-111)
  • "On the occurrence of BBB syndrome and hereditary sensory motor neuropathy in the same family" Baldellou A, et al; Genet Couns. 1991;2(4):255-7. 


Central Nervous System Involvement in CMT
  • "Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia. " Cruz Martinez A, et al. Electromyogr Clin Neurophysiol. 1999 Sep;39(6):331-5.
  • "Central nervous system involvement in a novel connexin 32 mutation affecting identical twins (3)", Marques W. Jr.;et al, J. Neurol. Neurosurg. Psychiatry 1999 66/6 (803-804)
  • "Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A", Butefisch C, et al; Neurology. 1999 Mar 10;52(4):890-1
  • "Central visual, acoustic, and motor pathway involvement in a Charcot Marie Tooth family with an Asn205Ser mutation in the connexin 32 gene", Bahr M, et al; J Neurol Neurosurg Psychiatry. 1999 Feb;66(2):202-6.
  • "A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation",Adachi T, et al; Rinsho Shinkeigaku. 1998 Dec;38(12):1037-41.
  • "Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations." Panas M, et al; J Neurol Neurosurg Psychiatry. 1998 Dec;65(6):947-8
  • "Significance of facial and trigeminal nerve involvement in Charcot-Marie-Tooth disease type 1A: a case report" Ito H, et al; Muscle Nerve. 1998 Aug;21(8):1108-10. 
  • "Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family" Sekijima Y, et al; J Neurol Sci. 1998 Jun 11;158(1):30-7. 
  • "Hypertrophied cauda equina presenting as intradural mass case report and review of literature." : Hahn M, et al ; Surg Neurol. 1998 May;49(5):514-8; discussion 518-9.
  • "Central motor pathway evaluation using magnetic coil stimulation in hereditary motor and sensory neuropathy type I (HMSN type I, Charcot-Marie-Tooth disease)." Sartucci F,et.al; Int J Neurosci 1997 Dec;92(3-4):145-159
  • "Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred", Frith, J.A. et al; J Neurology, Neurosurgery & Psychiatry 57:1343-1346:1994.
  • "Central motor conduction in a family with hereditary motor and sensory neuropathy with pyramidal signs (HMSN V)"; Schnider A., et al; J Neurol Neurosurg Psychiatry. 1991 Jun;54(6):511-5. 

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